AutismKB 2.0

Annotation Detail for CYB5R3


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Basic Information Top
Gene Symbol:CYB5R3 ( B5R,DIA1 )
Gene Full Name: cytochrome b5 reductase 3
Band: 22q13.2
Quick LinksEntrez ID:1727; OMIM: 613213; Uniprot ID:NB5R3_HUMAN; ENSEMBL ID: ENSG00000100243; HGNC ID: 2873
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body16 / 70761226
blastocyst6 / 6231996
fetus83 / 564012147
neonate0 / 310970 
infant4 / 23620169
juvenile10 / 55556179
adult276 / 1939121142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor11 / 94178116
cervical tumor5 / 34366145
chondrosarcoma17 / 82823205
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor13 / 119369108
germ cell tumor23 / 26384587
glioma20 / 106883187
head and neck tumor9 / 13630266
kidney tumor6 / 6895987
leukemia21 / 95842219
liver tumor32 / 96359332
lung tumor10 / 10312796
lymphoma8 / 71755111
non-neoplasia27 / 97250277
normal599 / 3360307178
ovarian tumor2 / 7668226
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS78 / 125680620
prostate cancer10 / 10268097
retinoblastoma3 / 4635664
skin tumor26 / 124949208
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland12 / 33197361
ascites6 / 40015149
bladder3 / 29757100
blood22 / 123478178
bone14 / 71655195
bone marrow1 / 4880120
brain188 / 1100989170
cervix10 / 48171207
connective tissue40 / 149255267
ear0 / 162120 
embryonic tissue33 / 215722152
esophagus2 / 2020998
eye24 / 211054113
heart16 / 89626178
intestine52 / 234472221
kidney20 / 21177794
larynx1 / 2414541
liver60 / 207743288
lung35 / 336974103
lymph0 / 442700 
lymph node5 / 9161054
mammary gland15 / 15327197
mouth7 / 67052104
muscle6 / 10771555
nerve6 / 15768380
ovary12 / 102051117
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta79 / 280825281
prostate29 / 189345153
salivary gland2 / 2015599
skin51 / 210574242
spleen4 / 5395274
stomach17 / 96619175
testis64 / 330442193
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus30 / 232878128
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201885_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1384.1
Adipocyte4088.75
AdrenalCortex1058.1
Adrenalgland1860.45
Amygdala1005.25
Appendix838.8
AtrioventricularNode350.05
BDCA4+_DentriticCells997.8
Bonemarrow672.5
BronchialEpithelialCells967.7
CD105+_Endothelial898.75
CD14+_Monocytes920.35
CD19+_BCells(neg._sel.)983.55
CD33+_Myeloid1113.2
CD34+1276.1
CD4+_Tcells311.65
CD56+_NKCells1070.9
CD71+_EarlyErythroid1947.5
CD8+_Tcells337.65
CardiacMyocytes1492.3
Caudatenucleus808.95
Cerebellum510.85
CerebellumPeduncles756.55
CiliaryGanglion662.4
CingulateCortex704.5
Colorectaladenocarcinoma371.25
DorsalRootGanglion512.9
FetalThyroid1272.7
Fetalbrain518.45
Fetalliver587.75
Fetallung1040.9
GlobusPallidus342.35
Heart2990.2
Hypothalamus1691.8
Kidney862.5
Leukemia_chronicMyelogenousK-562276
Leukemia_promyelocytic-HL-60401.35
Leukemialymphoblastic(MOLT-4)462.05
Liver1758.55
Lung3168.9
Lymphnode637.6
Lymphoma_burkitts(Daudi)377.7
Lymphoma_burkitts(Raji)644
MedullaOblongata609.1
OccipitalLobe687.1
OlfactoryBulb1374.4
Ovary582.55
Pancreas452.45
PancreaticIslet882.35
ParietalLobe755.5
Pituitary990.4
Placenta1402.45
Pons422.2
PrefrontalCortex1585.95
Prostate2560.9
Salivarygland342.45
SkeletalMuscle418
Skin753.85
SmoothMuscle1835.8
Spinalcord2028.1
SubthalamicNucleus532.2
SuperiorCervicalGanglion468.15
TemporalLobe629.4
Testis1406.05
TestisGermCell1994.55
TestisIntersitial1003.45
TestisLeydigCell945.3
TestisSeminiferousTubule1403.55
Thalamus819.85
Thymus755.95
Thyroid2118.75
Tongue1052.95
Tonsil491.9
Trachea813.6
TrigeminalGanglion659.4
Uterus1573.55
UterusCorpus769
WholeBlood663.65
Wholebrain957.8
colon828.25
pineal_day758.68
pineal_night792.26
retina1817.625
small_intestine814.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P100277
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala6.94 ± 0.38
Basal Forebrain7.02 ± 0.25
Basal Part of Pons7.03 ± 0.35
Cerebellar Cortex6.52 ± 0.24
Cerebellar Nuclei7.33 ± 0.35
Claustrum6.96 ± 0.49
Epithalamus6.66 ± 0.5
Frontal Lobe6.76 ± 0.38
Globus Pallidus7.72 ± 0.34
Hypothalamus7.1 ± 0.37
Insula6.65 ± 0.31
Limbic Lobe6.96 ± 0.46
Mesencephalon6.91 ± 0.45
Myelencephalon6.93 ± 0.32
Occipital Lobe6.86 ± 0.33
Parietal Lobe6.8 ± 0.45
Pontine Tegmentum6.85 ± 0.37
Striatum7.06 ± 0.36
Subthalamus6.9 ± 0.28
Temporal Lobe6.78 ± 0.32
Thalamus6.81 ± 0.36
White Matter7.71 ± 0.45
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NB5R3_HUMAN_111 9 111 119 VYFKDTHPK PRIDE
NB5R3_HUMAN_126 17 126 142 MSQYLESMQIGDTIEFR PRIDE
NB5R3_HUMAN_143 11 143 153 GPSGLLVYQGK PRIDE
NB5R3_HUMAN_144 11 144 154 GPSGLLVYQGK PRIDE
NB5R3_HUMAN_173 19 173 191 SVGMIAGGTGITPMLQVIR PRIDE
NB5R3_HUMAN_174 19 174 192 SVGMIAGGTGITPMLQVIR PRIDE
NB5R3_HUMAN_214 12 214 225 DILLRPELEELR PRIDE
NB5R3_HUMAN_215 12 215 226 DILLRPELEELR PRIDE
NB5R3_HUMAN_233 9 233 241 FKLWYTLDR PRIDE
NB5R3_HUMAN_241 18 241 258 APEAWDYGQGFVNEEMIR PRIDE
NB5R3_HUMAN_242 18 242 259 APEAWDYGQGFVNEEMIR PRIDE
NB5R3_HUMAN_259 38 259 296 DHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTER PRIDE
NB5R3_HUMAN_29 13 29 41 STPAITLESPDIK PRIDE
NB5R3_HUMAN_29 17 29 45 STPAITLESPDIKYPLR PRIDE
NB5R3_HUMAN_30 13 30 42 STPAITLESPDIK PRIDE
NB5R3_HUMAN_30 17 30 46 STPAITLESPDIKYPLR PRIDE
NB5R3_HUMAN_46 12 46 57 LIDREIISHDTR PRIDE
NB5R3_HUMAN_46 13 46 58 LIDREIISHDTRR PRIDE
NB5R3_HUMAN_47 12 47 58 LIDREIISHDTR PRIDE
NB5R3_HUMAN_61 23 61 83 FALPSPQHILGLPVGQHIYLSAR PRIDE
NB5R3_HUMAN_84 19 84 102 IDGNLVVRPYTPISSDDDK PRIDE
NB5R3_HUMAN_84 27 84 110 IDGNLVVRPYTPISSDDDKGFVDLVIK PRIDE
PAp00001650 12 215 226 DILLRPELEELR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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